筋原線維性ミオパチー

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_001267550.2(TTN):c.84376C>T (p.Gln28126Ter)	TTN	Likely pathogenic	2	179426483	179426483	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA353231
Deletion	NM_001267550.2(TTN):c.87887_87890del (p.His29296fs)	TTN	Likely pathogenic	2	179422099	179422102	GAAGT	G	criteria provided, single submitter	ClinGen:CA353032
single nucleotide variant	NM_001267550.2(TTN):c.94855C>T (p.Arg31619Ter)	TTN	Pathogenic/Likely pathogenic	2	179411203	179411203	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA353192
Insertion	NM_001267550.2(TTN):c.101098_101099insT (p.Asp33700fs)	TTN	Likely pathogenic	2	179400243	179400244	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA353372
Duplication	NM_001267550.2(TTN):c.45756dup (p.Tyr15253fs)	TTN	Likely pathogenic	2	179485580	179485581	A	AT	criteria provided, single submitter	ClinGen:CA353568
single nucleotide variant	NM_001267550.2(TTN):c.67349-2A>C	TTN	Pathogenic/Likely pathogenic	2	179444577	179444577	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA1991314,ClinVar:424832
single nucleotide variant	NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter)	TTN	Pathogenic/Likely pathogenic	2	179453730	179453730	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602263,ClinVar:424835
single nucleotide variant	NM_058246.4(DNAJB6):c.271T>A (p.Phe91Ile)	DNAJB6	Pathogenic	7	157160102	157160102	T	A	criteria provided, single submitter	ClinGen:CA358869,OMIM:611332.0007
single nucleotide variant	NM_058246.4(DNAJB6):c.273C>G (p.Phe91Leu)	DNAJB6	Pathogenic	7	157160104	157160104	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA358311,OMIM:611332.0008
single nucleotide variant	NM_001267550.2(TTN):c.99866-1G>A	TTN	Likely pathogenic	2	179401971	179401971	C	T	criteria provided, single submitter	ClinGen:CA10576454